GeneBe

MAP7

microtubule associated protein 7

Basic information

Region (hg38): 6:136342281-136550819

Links

ENSG00000135525 ∙ NCBI:9053 ∙ OMIM:604108 ∙ HGNC:6869 ∙ Uniprot:Q14244 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAP7 gene.

  • not_specified (122 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003980.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
115
clinvar
2
clinvar
1
clinvar
 118
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 115 3 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAP7protein_codingprotein_codingENST00000454590 18208083
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.4240.5761257280201257480.0000795
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7034154570.9080.00002844924
Missense in Polyphen114132.210.862291431
Synonymous0.5831581680.9430.000009821572
Loss of Function4.821044.80.2230.00000264506

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009280.0000916
Ashkenazi Jewish0.00009930.0000992
East Asian0.00005440.0000544
Finnish0.00009240.0000924
European (Non-Finnish)0.0001150.000114
Middle Eastern0.00005440.0000544
South Asian0.00003310.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments. {ECO:0000269|PubMed:11719555, ECO:0000269|PubMed:8408219, ECO:0000269|PubMed:9989799}.;

Recessive Scores

pRec
0.129

Intolerance Scores

loftool
0.626
rvis_EVS
0.49
rvis_percentile_EVS
79.62

Haploinsufficiency Scores

pHI
0.653
hipred
Y
hipred_score
0.721
ghis
0.482

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.628

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Map7
Phenotype
endocrine/exocrine gland phenotype; immune system phenotype; reproductive system phenotype;

Gene ontology

Biological process
microtubule cytoskeleton organization;response to osmotic stress;establishment or maintenance of cell polarity;protein localization to plasma membrane
Cellular component
cytosol;microtubule;microtubule associated complex;microtubule cytoskeleton;basolateral plasma membrane;axon;perinuclear region of cytoplasm
Molecular function
signaling receptor binding;structural molecule activity;protein binding